last update : 11-04-12016
|
Symbol
| HCMU
|
Location
| 1q21.3
|
Name
|
hyalinosis cutis and mucosae of Urbach-Wiethe |
Other name(s)
|
lipoproteinosis
Urbach-Wiethe disease |
Corresponding gene
|
ECM1
|
Other symbol(s)
| LP, URBWD
|
Main clinical features
|
association of early hoarseness with an unusual skin eruption
papular infiltration of the margin of the lids producing 'itchy eyes,' and infiltration in the tongue and its frenulum, in the larynx leading to hoarseness, and in the skin (elbows and axilla) are characteristic
moniliform blepharosis is also an ocular diagnostic feature (PMID: 24079542)) |
Genetic determination
| autosomal recessive |
Function/system disorder
| dermatology |
Type
| disease
|
Name
| extracellular matrix protein 1
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
nonsense
|  
|  
| C589T (Q197Ter) mutation in the exon 6, with a serious form
| |
Remark(s)
|
interaction between ECM1 and FBN1 may play a role in the pathogenesis of HCMU as well as in a number of processes involving the extracellular matrix of connective tissues
acitretin treatment may have efficacy for some of patients with lipoid proteinosis, with superior effect on laryngeal symptoms than skin lesions (PMID: 26778481)) |
Genotype/Phenotype correlations
|
mutations in exon 7 have a slightly milder phenotype than those with exon 6 mutations |